GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: ACAN

ACAN (aggrecan)
EnsemblGeneIds (GRCh38): ENSG00000157766
EnsemblGeneIds (GRCh37): ENSG00000157766
OMIM: 155760, Gene2Phenotype
ACAN is in 8 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

yes - aggrecan gp of SD. Previously called AGC1. Green - short stature part of OMIM clinical description ; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Osteochondritis dissecans, short stature, and early-onset osteoarthritis 165800; Spondyloepimetaphyseal dysplasia, aggrecan type 61283; Spondyloepiphyseal dysplasia, Kimberley type 608361

Publications

24762113

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Osteochondritis dissecans, short stature, and early-onset osteoarthritis 165800
Spondyloepimetaphyseal dysplasia, aggrecan type 61283
Spondyloepiphyseal dysplasia, Kimberley type 608361

OMIM

155760

Clinvar variants

Variants in ACAN

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: ACAN was added gene: ACAN was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ACAN were set to Osteochondritis dissecans, short stature, and early-onset osteoarthritis 165800; Spondyloepimetaphyseal dysplasia, aggrecan type 61283; Spondyloepiphyseal dysplasia, Kimberley type 608361

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: ACAN